Research output per year
Research output per year
Personal profile
Education/Academic qualification
Medical Doctor, University of Helsinki
Award Date: 16 May 2019
International and National Collaboration
Publications and projects within past five years.
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Genetic etiology of progressive pediatric neurological disorders
Aaltio, J., Etula, A., Ojanen, S., Brilhante, V., Lönnqvist, T., Isohanni, P. & Suomalainen, A., 2024, In: Pediatric Research. 95, p. 102–111 10 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Niacin supplementation in a child with novel MTTN variant m.5670A>G causing early onset mitochondrial myopathy and NAD+ deficiency
Aaltio, J., Euro, L., Tynninen, O., Vu, H. S., Ni, M., DeBerardinis, R. J., Suomalainen, A. & Isohanni, P., Oct 2024, In: Neuromuscular Disorders. 43, p. 14-19 6 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Relevance of early molecular diagnosis in children's progressive neurological disorders
Aaltio, J., 2024, Helsinki: Helsingin yliopisto. 101 p.Research output: Thesis › Doctoral Thesis › Collection of Articles
Open Access -
Cost-effectiveness of whole-exome sequencing in progressive neurological disorders of children
Aaltio, J., Hyttinen, V., Kortelainen, M., Frederix, G. W. J., Lönnqvist, T., Suomalainen, A. & Isohanni, P., Jan 2022, In: European Journal of Paediatric Neurology. 36, p. 30-36 7 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders
Sainio, M. T., Aaltio, J., Hyttinen, V., Kortelainen, M., Ojanen, S., Paetau, A., Tienari, P., Ylikallio, E., Auranen, M. & Tyynismaa, H., Jan 2022, In: Acta Neurologica Scandinavica. 145, 1, p. 63-72 10 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile